Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_assertion description "[The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_assertion evidence source_evidence_curated NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_assertion SIO_000772 19603532 NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_assertion wasDerivedFrom uniprot-20130724 NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_assertion wasGeneratedBy ECO_0000218 NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.